Time flies by. Last week, we have had the final General Assembly of the EuroEPINOMICS project in Tuusula, Finland. All four projects of the EuroEPINOMICS consortium presented the current, ongoing projects and it’s good to hear that there are multiple publications in various stages coming up. Over the three years of the consortium, the diverse groups grew closer together. During this meeting many unpublished results were shown, including extension of studies on genes such as HCN1, CHD2, GRIN2A, GRIN2B or RBFOX1 as well as more data on epigenetics in acquired epilepsy.
Sightseeing. We meet on the bank of a lake after some 30 minutes on the train to Helsinki, Finland. A walk to a near-by museum started the meeting for those who had the luxury of being there early enough. The weather was treating us nicely (the program didn’t) and there is more to discuss than there is time. Good signs as far as I am concerned. The consortium certainly succeeded in connecting a diverse group of people, which could be witnessed by the authors of this blog if you didn’t make it to Finland. The collaborations are well-established, and there is a strong wish to continue in one way or the other using the existing networks, shared expertise and working pipelines. The RES consortium continues without direct funding stronger in number than before.
Epilepsy genetics before and after. EuroEPINOMICS was my first contact with epilepsy genetics, so looking back is an interesting bit of personal history – for me. If I took a chair (to have some perspective) and looked back, exome sequencing was only used sporadically when we started this effort. Ingo provocatively named our 2012 meeting in Luxembourg the meeting of the 1000 exomes. We still thought that 1000 exomes was quite a lot but certainly to small to address the complex genetics of the common epilepsies. However, there is not only frustration that came along with the discovery of the never-ending river of rare variants. In the recent months, we have increasingly talked about large-scale database, exome repositories and cohort-wide analysis methods, acknowledging that we have finally arrived in the era or large data. Exome studies are no longer community exploration efforts, but require data management strategies beyond the Excel sheet and the projects were helpful in getting many activities of the ground.
Challenges for the future. The current EuroEPINOMICS data is translated into publications and collaborative projects and there are many hand-shake projects with other consortia including the US-based Epi4K consortium and DESIRE, one of the next large-scale European collaborative projects in the field of epilepsy. Part of our mission at the University of Luxembourg is to provide the infrastructure for all these efforts, making sure that no exome and no phenotype is left behind. We will transition the BENCH phenotype database into a custom-made solution that will be hosted on our servers and support data capture and storage. Likewise, we will continue to provide the analysis pipeline for genome sequencing studies that are associated in the RES and CoGIE subprojects of EuroEPINOMICS.
Goodbye EuroEPINOMICS. It doesn’t seem like much of a goodbye as all projects are still in full swing and a number of exciting results are just about to surface. But with the funding running out, it’s time to say goodbye to the consortium. Personally, I’m thankful for getting involved in many aspects in epilepsy genetics via EuroEPINOMICS.